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Genomics for all Australians could revolutionise crisis focused healthcare; governments urged to prepare

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All Australians will be able to have their genomes mapped within the next 25 years and health systems will need to provide the high tech test, according to a new report into the “exciting” healthcare revolution shifting the emphasis of medicine from treating patients to preventing disease.

With recommendations including the implementation of a national strategy to harness clinical opportunities and position the country as a global leader, The Future of Precision Medicine in Australia says healthcare to come will no longer be focused on crisis management.

Soon precision medicine will be a standard part of best practice health care, chair of the Australian Council of Learned Academies expert working group that produced the report Professor Robert Williamson said.

“I think that in 15, 20, 25 years time the advantages of having access to the genome information for anyone and everyone will be so obvious that people will want to opt in to that particular approach,” he said.

“The exciting long-term prospect is that precision medicine can be used in order to shift the emphasis of medicine from treating the sick into preventing the sickness happening at all.”

Precision medicine, the report says, has a broad remit, “encompassing genomics and other omics (metabolomics, microbiomics, proteomics and transcriptomics), epigenetics, gene editing technologies such as CRISPR and the development of targeted therapies specific to an individual’s disease profile”.

Already, advances are being seen in clinical approaches to cancer, as well as rare single-gene disorders that are a significant cause of intellectual and physical disability in children.

“In cancer therapy already for melanoma, lymphoma and leukaemia, doctors are making the choice of drugs to treat a cancer based on which mutations have occurred and are driving the proliferation of cells and this is much, much better medicine because we don't really want doctors trying this drug and then that drug and then the other drug until they find one that works,” Williamson said.

“With the information from genome analysis, clinicians – particularly oncologists – will have the opportunity to match the powerful drug and the patients and the cancer.”

In years to come, such is the pace of progress, outcomes for complex disorders will be transformed through disease prevention and early intervention.

“We're looking at coronary artery disease, we're looking at diabetes, we're looking at Alzheimer’s disease, we’re looking at conditions where there's a mixture of genetics and environment, and knowing the genome and knowing the environment gives the doctor the opportunity to offer accurate information to the person so they can maintain the maximum probability of good health,” Williamson said.

Commissioned by the Commonwealth Science Council and Australia’s Chief Scientist to inform policy and guide resource allocation, the report says it is important that the gap between hospital medicine and primary care – which represents the line between federal and state responsibilities – does not hinder the uptake of omic approaches to precision medicine. It claims a national program of precision medicine would lead to expanded tertiary education and training opportunities in human genomics and related fields, with Australia well placed to become an international education centre.

Agile regulatory conditions are recommended to allow science and medicine to advance at rapid pace, while governments were advised to put in place the required infrastructure, including data capabilities. Implementing shared data integrity standards would speed up data sharing and linkage, contributing to the development of new therapies, technologies and predictive systems. Australian precision medicine initiatives are also urged to allocate specific resources to studies on ethics, law, education and community issues to address social justice issues such as access, equity and consent.

“In Australia, as we are in a rich country with really very, very excellent health care in general, we should be in a position to make this available and then indeed we should be certain that this is not something that's only available to people with money in Melbourne and Sydney,” Williamson said.

Meanwhile, the Australian Genomics Health Alliance has announced an Acute Care Genomics study that will provide genomic test results in as little as five days for around 250 babies and children in intensive care units over the next two years. DNA samples collected at 18 neonatal and paediatric intensive care units will be sent to Genome.One in Sydney and the Victorian Clinical Genetics Services for rapid testing to quickly inform diagnosis and clinical care.

The Federal Health Department has also commissioned a national stocktake of all medical genetic and genomic testing of patient samples during the 2016/17 financial year. Following stock-taking surveys in 2006 and 2011, this latest study by the Royal College of Pathologists of Australasia will provide information on testing services available to Australian patients for disease diagnosis, monitoring, treatment, disease prevention, prediction or predisposition assessment. A final report will be provided to the government in June.

The cost of sequencing an individual’s genomes has plummeted from more than US$1 billion to US$1000 over the past 15 years.